A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv970804



Internal ID18259340
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:23310083..23312752hg38UCSC Ensembl
Innerchr7:23349702..23352371hg19UCSC Ensembl
Innerchr7:23316227..23318896hg18UCSC Ensembl
Cytoband7p15.3
Allele length
AssemblyAllele length
hg382670
hg192670
hg182670
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2436976, nssv2436978, nssv2436975, nssv2436979, nssv2436974, nssv2438567, nssv2436977, nssv2438565, nssv2438566, nssv2438564
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesIGF2BP3
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv970804
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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